Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R267*
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PAX6

NM_001368894.2:p.R267*

Associated Papers

Structural brain abnormalities in 12 persons with aniridia.

Grant MK et al.

F1000research, 2017

Assessment of PAX6 alleles in 66 families with aniridia.

Bobilev AM et al.

Clinical Genetics, 2016

26661695 (PubMed )
Supplement: supplement_1.pdf

Increased functional connectivity in intrinsic neural networks in individuals with aniridia.

Pierce JE et al.

Frontiers in Human Neuroscience, 2014

PAX6 mutations reviewed.

Prosser J et al.

Human Mutation, 1998

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

Axton R et al.

Journal of Medical Genetics, 1997

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

Kondo-Saitoh A et al.

European Journal of Ophthalmology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."